Stam Anine H, Louter Mark A, Haan Joost, de Vries Boukje, van den Maagdenberg Arn M J M, Frants Rune R, Ferrari Michel D, Terwindt Gisela M
Leiden University Medical Centre, The Netherlands.
Cephalalgia. 2011 Jan;31(2):199-205. doi: 10.1177/0333102410375629. Epub 2010 Jul 2.
Our objective was to study the long-term prognosis of sporadic hemiplegic migraine (SHM).
We performed a longitudinal follow-up study in 18 patients who were diagnosed with SHM between 1993 and 1996. Follow-up time between the first and second survey ranged from nine to 14 years. These patients were included as part of a genetic study in which we systematically analysed the role of the three known familial hemiplegic migraine (FHM) genes.
In 12 out of 18 patients the clinical diagnosis was unchanged. In two of the six remaining patients the attacks were no longer associated with hemiplegia; one of them had an ATP1A2 gene mutation (E120A). In the four other patients, the diagnosis changed into FHM, because a family member had developed hemiplegic migraine since the initial diagnosis was made. In two of the four patients a mutation was demonstrated (CACNA1A [R583Q] and ATP1A2 [R834X]).
This study shows that the diagnosis of SHM changes into FHM in a considerable percentage of patients (22% [4 of 18]), almost a decade after the initial diagnosis. This indicates that a careful follow-up of SHM patients and their families is advisable for optimal care and counseling. Diagnostic screening of FHM genes in SHM patients can be of value. Our genetic and clinical follow-up studies reinforce the evidence that FHM and SHM are part of the same spectrum of migraine.
我们的目的是研究散发性偏瘫性偏头痛(SHM)的长期预后。
我们对1993年至1996年间被诊断为SHM的18例患者进行了纵向随访研究。第一次和第二次调查之间的随访时间为9至14年。这些患者作为一项基因研究的一部分被纳入,在该研究中我们系统地分析了三种已知的家族性偏瘫性偏头痛(FHM)基因的作用。
18例患者中有12例临床诊断未变。其余6例患者中有2例发作不再与偏瘫相关;其中1例有ATP1A2基因突变(E120A)。另外4例患者的诊断变为FHM,因为自最初诊断以来有家庭成员出现了偏瘫性偏头痛。4例患者中有2例检测到突变(CACNA1A [R583Q]和ATP1A2 [R834X])。
本研究表明,在相当比例的患者(22%[18例中的4例])中,SHM的诊断在初始诊断近十年后转变为FHM。这表明,为了提供最佳护理和咨询,对SHM患者及其家属进行仔细随访是可取的。对SHM患者进行FHM基因的诊断性筛查可能有价值。我们的基因和临床随访研究进一步证明了FHM和SHM是偏头痛同一谱系的一部分。